Michel Vekemans
Overview
Explore the profile of Michel Vekemans including associated specialties, affiliations and a list of published articles.
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106
Citations
3427
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Recent Articles
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Ruaud L, Roux N, Boutaud L, Bessieres B, Ageorges F, Achaiaa A, et al.
Birth Defects Res
. 2022 Apr;
114(10):499-504.
PMID: 35426486
Background: The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss-of-function variants of the THOC6 gene...
3.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3831-3837.
PMID: 34296525
Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the...
4.
Seror V, LHaridon O, Bussieres L, Malan V, Fries N, Vekemans M, et al.
JAMA Netw Open
. 2019 Mar;
2(3):e191062.
PMID: 30924894
Importance: Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS). Objective: To assess...
5.
Beaufrere A, Bonniere M, Tantau J, Roth P, Schaerer E, Brioude F, et al.
Fetal Pediatr Pathol
. 2019 Jan;
37(6):411-417.
PMID: 30595068
Introduction: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome. Clinical features are highly variable, including occasional posterior fossa malformations but no femoral shortening. Case Report: We report two fetuses...
6.
Malan V, Bussieres L, Winer N, Jais J, Baptiste A, Le LorcH M, et al.
JAMA
. 2018 Aug;
320(6):557-565.
PMID: 30120476
Importance: Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required...
7.
Beaufrere A, Bessieres B, Bonniere M, Driessen M, Alfano C, Couderc T, et al.
Brain Pathol
. 2018 Jul;
29(1):114-125.
PMID: 30020561
Background: The recent outbreak of Zika virus (ZIKV) infection and the associated increased prevalence of microcephaly in Brazil underline the impact of viral infections on embryo fetal development. The aim...
8.
Alby C, Boutaud L, Bessieres B, Serre V, Rio M, Cormier-Daire V, et al.
Am J Med Genet A
. 2018 Apr;
176(5):1091-1098.
PMID: 29681083
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic...
9.
Egloff M, Nguyen L, Siquier-Pernet K, Cormier-Daire V, Baujat G, Attie-Bitach T, et al.
Eur J Hum Genet
. 2018 Feb;
26(6):912-918.
PMID: 29483668
Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including unmasking of a recessive variant by a chromosomal deletion. Here,...
10.
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, et al.
Birth Defects Res
. 2018 Jan;
110(7):598-602.
PMID: 29356416
Background: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated...